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Impact of calreticulin mutations on treatment and survival outcomes in myelofibrosis during ruxolitinib therapy.
Ann Hematol
January 2025
Department of Engineering for Innovation Medicine, Section of Innovation Biomedicine, Hematology Area, University of Verona, Verona, Italy.
Calreticulin (CALR) mutations are detected in around 20% of patients with primary and post-essential thrombocythemia myelofibrosis (MF). Regardless of driver mutations, patients with splenomegaly and symptoms are generally treated with JAK2-inhibitors, most commonly ruxolitinib. Recently, new therapies specifically targeting the CALR mutant clone have entered clinical investigation.
View Article and Find Full Text PDF[Effect of ten-eleven translocation methylcytosine dioxygenase 2 gene mutations on the secondary myelofibrosis of JAK2 positive myeloproliferative neoplasms patients].
Zhonghua Yi Xue Za Zhi
January 2025
Department of Hematology, the Second Hospital of Tianjin Medical University, Tianjin300211, China.
To investigate the effect of ten-eleven translocation methylcytosine dioxygenase 2 (TET2) gene mutations on the secondary myelofibrosis (SMF) of JAK2 myeloproliferative neoplasms (MPN) patients. A retrospective collection was conducted on MPN patients with JAK2 mutation detected by second-generation sequencing in the Department of Hematology, the Second Hospital of Tianjin Medical University. TET2JAK2 MPN patients were selected as the mutant group, and TET2JAK2 MPN patients matched for age and gender were selected as the non-mutant group.
View Article and Find Full Text PDFOLAgen: A Software Tool for Reagent Design to Expand Access to Single-Nucleotide Variant Detection by the Oligonucleotide Ligation Assay.
J Mol Diagn
January 2025
Department of Biomedical Engineering, Vanderbilt University, Nashville, Tennessee. Electronic address:
Single-nucleotide variants (SNVs) and polymorphisms are characteristic biomarkers in various biological contexts, including pathogen drug resistances and human diseases. Tools that lower the implementation barrier of molecular SNV detection methods would provide greater leverage of the expanding single-nucleotide polymorphism/SNV database. The oligonucleotide ligation assay (OLA) is a highly specific means for detection of known SNVs and is especially powerful when coupled with PCR.
View Article and Find Full Text PDFIdentification of βIIΣ1-spectrin as a binding partner of the GH-regulated human obesity scaffold protein SH2B1.
Endocrinology
January 2025
Graduate Program in Cellular and Molecular Biology.
SH2B1β is a multifunctional scaffold protein that modulates cytoskeletal processes such as cellular motility and neurite outgrowth. To identify novel SH2B1β-interacting proteins involved in these processes, a yeast two-hybrid assay was performed. The C-terminal 159 residues of the cytoskeleton structural protein, βIIΣ1-spectrin, interacted with the N-terminal 260 residues of SH2B1β, a region implicated in SH2B1β enhancement of cell motility and localization at the plasma membrane.
View Article and Find Full Text PDFClonal hematopoiesis of indeterminate potential and the risk of pulmonary embolism: an observational study.
EClinicalMedicine
August 2024
Center for Intelligent Medicine Research, Greater Bay Area Institute of Precision Medicine (Guangzhou), State Key Laboratory of Genetic Engineering, Center for Evolutionary Biology, School of Life Sciences, Fudan University, Guangzhou, China.
Background: Pulmonary embolism causes a substantial burden of morbidity and mortality. Although there are several well-established risk factors for pulmonary embolism, a substantial proportion of cases cannot be attributed to provoked or known risk factors. Accumulating evidence has suggested an association of clonal hematopoiesis of indeterminate potential (CHIP) with the risk of arterial thromboembolism.
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